C18Y (p.Cys18Tyr) variant of SLC26A4 (Pendrin)
C18Y (p.Cys18Tyr) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
C18Y (p.Cys18Tyr) variant details
- p.Cys18Tyr
- gnomAD 7-107661694-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.41
- MetaSVM -0.50
- CADD 18.90
- Population evidence available
- Structural context available
- Literature evidence available